Compendium of Cancer Genome Aberrations

HAEM5:B-lymphoblastic leukaemia/lymphoma with high hyperdiploidy: Difference between revisions

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No recurrent gene rearrangements have been described<ref name=":3" />.
No recurrent gene rearrangements have been described<ref name=":3" />.
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Details on clinical significance such as prognosis and other important information can be provided in the notes section. Please include references throughout the table. Do not delete the table.'')</span>
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|<span class="blue-text">EXAMPLE:</span> ''CIC::DUX4''
|<span class="blue-text">EXAMPLE:</span> ''CIC::DUX4''
|<span class="blue-text">EXAMPLE:</span> Typically, the last exon of ''CIC'' is fused to ''DUX4''. The fusion breakpoint in ''CIC'' is usually intra-exonic and removes an inhibitory sequence, upregulating ''PEA3'' genes downstream of ''CIC'' including ''ETV1'', ''ETV4'', and ''ETV5''.
|<span class="blue-text">EXAMPLE:</span> Typically, the last exon of ''CIC'' is fused to ''DUX4''. The fusion breakpoint in ''CIC'' is usually intra-exonic and removes an inhibitory sequence, upregulating ''PEA3'' genes downstream of ''CIC'' including ''ETV1'', ''ETV4'', and ''ETV5''.
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*
 
<blockquote class="blockedit">{{Box-round|title=v4:Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications).|Please incorporate this section into the relevant tables found in:
* Chromosomal Rearrangements (Gene Fusions)
* Individual Region Genomic Gain/Loss/LOH
* Characteristic Chromosomal Patterns
* Gene Mutations (SNV/INDEL)}}</blockquote>
 
*Pediatric patients with high hyperdiploidy have been reported to have a favorable prognosis with cure seen in >90% of children <ref name=":0">{{Cite journal|last=Paulsson|first=Kajsa|last2=Forestier|first2=Erik|last3=Andersen|first3=Mette K.|last4=Autio|first4=Kirsi|last5=Barbany|first5=Gisela|last6=Borgström|first6=Georg|last7=Cavelier|first7=Lucia|last8=Golovleva|first8=Irina|last9=Heim|first9=Sverre|date=2013-09|title=High modal number and triple trisomies are highly correlated favorable factors in childhood B-cell precursor high hyperdiploid acute lymphoblastic leukemia treated according to the NOPHO ALL 1992/2000 protocols|url=https://pubmed.ncbi.nlm.nih.gov/23645689|journal=Haematologica|volume=98|issue=9|pages=1424–1432|doi=10.3324/haematol.2013.085852|issn=1592-8721|pmc=3762100|pmid=23645689}}</ref>
*High event-free survival (EFS) was associated with trisomy 4, 6, 17, 18, and 22, presence of triple trisomies (4, 10, 17), and high modal numbers ( > 50 chromosomes)<ref name=":0" />
*Negative prognostic features include > 10 years of age, male gender, and bone marrow fibrosis <ref name=":0" />
*Patients with low hyperdiploidy have been reported to have a 49% EFS at 5 years compared to those with high hyperdiploidy with a five-year EFS of 71% <ref>{{Cite journal|last=Chessels|first=J. M.|last2=Swansbury|first2=G. J.|last3=Reeves|first3=B.|last4=Bailey|first4=C. C.|last5=Richards|first5=S. M.|date=1997-10|title=Cytogenetics and prognosis in childhood lymphoblastic leukaemia: results of MRC UKALL X. Medical Research Council Working Party in Childhood Leukaemia|url=https://pubmed.ncbi.nlm.nih.gov/9359508|journal=British Journal of Haematology|volume=99|issue=1|pages=93–100|doi=10.1046/j.1365-2141.1997.3493163.x|issn=0007-1048|pmid=9359508}}</ref>
*Familial Forms


<blockquote class="blockedit">
<blockquote class="blockedit">
<center><span style="color:Maroon">'''End of V4 Section'''</span>
<center>
----
</blockquote>
</blockquote>
==Individual Region Genomic Gain/Loss/LOH==
==Individual Region Genomic Gain/Loss/LOH==


This entity is defined by a hyperdiploid pattern with recurrent, non-random gains of one or more copies of entire chromosomes. Below are the typical chromosomal gains described.
This entity is defined by a hyperdiploid pattern with recurrent, non-random gains of one or more copies of entire chromosomes. Below are the typical chromosomal gains described.
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Includes aberrations not involving gene rearrangements. Details on clinical significance such as prognosis and other important information can be provided in the notes section. Can refer to CGC workgroup tables as linked on the homepage if applicable. Please include references throughout the table. Do not delete the table.'') </span>
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|No established significance
|No established significance
|No
|No
|N/A
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<blockquote class="blockedit">{{Box-round|title=v4:Genomic Gain/Loss/LOH|The content below was from the old template. Please incorporate above.}}</blockquote>
<blockquote class="blockedit"></blockquote><blockquote class="blockedit">
 
<center>
*Gains of chromosomes X, 4, 6, 10, 14, 17, 18 and 21 are most common with the following frequencies:
**21 (98%)
**X (90%)
**6 (83%)
**14 (83%)
**18 (78%)
**4 (77%)
**17 (73%)
**10 (71%)
**8 (38%)
 
<ref name=":0" /> <ref name=":4">{{Cite journal|last=Paulsson|first=Kajsa|last2=Forestier|first2=Erik|last3=Lilljebjörn|first3=Henrik|last4=Heldrup|first4=Jesper|last5=Behrendtz|first5=Mikael|last6=Young|first6=Bryan D.|last7=Johansson|first7=Bertil|date=2010-12-14|title=Genetic landscape of high hyperdiploid childhood acute lymphoblastic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/21098271|journal=Proceedings of the National Academy of Sciences of the United States of America|volume=107|issue=50|pages=21719–21724|doi=10.1073/pnas.1006981107|issn=1091-6490|pmc=3003126|pmid=21098271}}</ref> <ref name=":5">{{Cite journal|last=Paulsson|first=Kajsa|last2=Johansson|first2=Bertil|date=2009-08|title=High hyperdiploid childhood acute lymphoblastic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/19415723|journal=Genes, Chromosomes & Cancer|volume=48|issue=8|pages=637–660|doi=10.1002/gcc.20671|issn=1098-2264|pmid=19415723}}</ref>
{| class="wikitable sortable"
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!Chromosome Number!!Gain/Loss/Amp/LOH!!Region
|-
|<span class="blue-text">EXAMPLE:</span> 8||<span class="blue-text">EXAMPLE:</span> Gain||<span class="blue-text">EXAMPLE:</span> chr8:0-1000000
|-
|<span class="blue-text">EXAMPLE:</span> 7||<span class="blue-text">EXAMPLE:</span> Loss||<span class="blue-text">EXAMPLE:</span> chr7:0-1000000
|}
<blockquote class="blockedit">
<center><span style="color:Maroon">'''End of V4 Section'''</span>
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</blockquote>
</blockquote>
==Characteristic Chromosomal or Other Global Mutational Patterns==
==Characteristic Chromosomal or Other Global Mutational Patterns==


Put your text here and fill in the table <span style="color:#0070C0">(I''nstructions: Included in this category are alterations such as hyperdiploid; gain of odd number chromosomes including typically chromosome 1, 3, 5, 7, 11, and 17; co-deletion of 1p and 19q; complex karyotypes without characteristic genetic findings; chromothripsis; microsatellite instability; homologous recombination deficiency; mutational signature pattern; etc. Details on clinical significance such as prognosis and other important information can be provided in the notes section. Please include references throughout the table. Do not delete the table.'')</span>
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T: N/A
T: N/A
|No
|No
|Pediatric patients with high hyperdiploidy have been reported to have a favorable prognosis with cure seen in >90% of children<ref name=":0" />.
|Pediatric patients with high hyperdiploidy have been reported to have a favorable prognosis with cure seen in >90% of children<ref name=":0">{{Cite journal|last=Paulsson|first=Kajsa|last2=Forestier|first2=Erik|last3=Andersen|first3=Mette K.|last4=Autio|first4=Kirsi|last5=Barbany|first5=Gisela|last6=Borgström|first6=Georg|last7=Cavelier|first7=Lucia|last8=Golovleva|first8=Irina|last9=Heim|first9=Sverre|date=2013-09|title=High modal number and triple trisomies are highly correlated favorable factors in childhood B-cell precursor high hyperdiploid acute lymphoblastic leukemia treated according to the NOPHO ALL 1992/2000 protocols|url=https://pubmed.ncbi.nlm.nih.gov/23645689|journal=Haematologica|volume=98|issue=9|pages=1424–1432|doi=10.3324/haematol.2013.085852|issn=1592-8721|pmc=3762100|pmid=23645689}}</ref>.
High event-free survival (EFS) was associated with trisomy 4, 6, 17, 18, and 22, presence of triple trisomies (4, 10, 17), and high modal numbers ( > 50 chromosomes)<ref name=":0" />.
Patients with low hyperdiploidy have been reported to have a 49% EFS at 5 years compared to those with high hyperdiploidy with a five-year EFS of 71%
Negative prognostic features include > 10 years of age, male gender, and bone marrow fibrosis<ref name=":0" />.
Negative prognostic features include > 10 years of age, male gender, and bone marrow fibrosis<ref name=":0" />.
More recent studies have validated a risk profile determining that outcome appears to be linked to  specific chromosomal gains<ref>{{Cite journal|last=Enshaei|first=Amir|last2=Vora|first2=Ajay|last3=Harrison|first3=Christine J.|last4=Moppett|first4=John|last5=Moorman|first5=Anthony V.|date=2021-11|title=Defining low-risk high hyperdiploidy in patients with paediatric acute lymphoblastic leukaemia: a retrospective analysis of data from the UKALL97/99 and UKALL2003 clinical trials|url=https://pubmed.ncbi.nlm.nih.gov/34715050|journal=The Lancet. Haematology|volume=8|issue=11|pages=e828–e839|doi=10.1016/S2352-3026(21)00304-5|issn=2352-3026|pmc=8567211|pmid=34715050}}</ref>.
More recent studies have validated a risk profile determining that outcome appears to be linked to  specific chromosomal gains<ref>{{Cite journal|last=Enshaei|first=Amir|last2=Vora|first2=Ajay|last3=Harrison|first3=Christine J.|last4=Moppett|first4=John|last5=Moorman|first5=Anthony V.|date=2021-11|title=Defining low-risk high hyperdiploidy in patients with paediatric acute lymphoblastic leukaemia: a retrospective analysis of data from the UKALL97/99 and UKALL2003 clinical trials|url=https://pubmed.ncbi.nlm.nih.gov/34715050|journal=The Lancet. Haematology|volume=8|issue=11|pages=e828–e839|doi=10.1016/S2352-3026(21)00304-5|issn=2352-3026|pmc=8567211|pmid=34715050}}</ref>.
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<blockquote class="blockedit">{{Box-round|title=v4:Characteristic Chromosomal Aberrations / Patterns|The content below was from the old template. Please incorporate above.}}</blockquote>
<blockquote class="blockedit"></blockquote>


*Numerical increase in chromosomes usually without structural abnormalities
*
 
*Extra copies of chromosomes are non-random.


<blockquote class="blockedit">
<blockquote class="blockedit">
<center><span style="color:Maroon">'''End of V4 Section'''</span>
<center>
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</blockquote>
</blockquote>
==Gene Mutations (SNV/INDEL)==
==Gene Mutations (SNV/INDEL)==


Nine genes have been found to be recurrently mutated and were also either mutated more frequently than expected by chance or targeted by structural events<ref name=":4" />.
Nine genes have been found to be recurrently mutated and were also either mutated more frequently than expected by chance or targeted by structural events<ref name=":4">{{Cite journal|last=Paulsson|first=Kajsa|last2=Forestier|first2=Erik|last3=Lilljebjörn|first3=Henrik|last4=Heldrup|first4=Jesper|last5=Behrendtz|first5=Mikael|last6=Young|first6=Bryan D.|last7=Johansson|first7=Bertil|date=2010-12-14|title=Genetic landscape of high hyperdiploid childhood acute lymphoblastic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/21098271|journal=Proceedings of the National Academy of Sciences of the United States of America|volume=107|issue=50|pages=21719–21724|doi=10.1073/pnas.1006981107|issn=1091-6490|pmc=3003126|pmid=21098271}}</ref>.
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: This table is not meant to be an exhaustive list; please include only genes/alterations that are recurrent or common as well either disease defining and/or clinically significant. If a gene has multiple mechanisms depending on the type or site of the alteration, add multiple entries in the table. For clinical significance, denote associations with FDA-approved therapy (not an extensive list of applicable drugs) and NCCN or other national guidelines if applicable; Can also refer to CGC workgroup tables as linked on the homepage if applicable as well as any high impact papers or reviews of gene mutations in this entity. Details on clinical significance such as prognosis and other important information such as concomitant and mutually exclusive mutations can be provided in the notes section. Please include references throughout the table. Do not delete the table.'') </span>
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<br />
<br />
|Nonsynonymous single nucleotide variant (SNV) in known codon 12 and 13 hotspot region, and additional mutations in codons 116 and 146<ref name=":5" />
|Nonsynonymous single nucleotide variant (SNV) in known codon 12 and 13 hotspot region, and additional mutations in codons 116 and 146<ref name=":5">{{Cite journal|last=Paulsson|first=Kajsa|last2=Johansson|first2=Bertil|date=2009-08|title=High hyperdiploid childhood acute lymphoblastic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/19415723|journal=Genes, Chromosomes & Cancer|volume=48|issue=8|pages=637–660|doi=10.1002/gcc.20671|issn=1098-2264|pmid=19415723}}</ref>
|Oncogene
|Oncogene
|Common
|Common
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No relevant epigenomic alterations have been described.  
No relevant epigenomic alterations have been described.  
Put your text here
==Genes and Main Pathways Involved==
==Genes and Main Pathways Involved==
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Please include references throughout the table. Do not delete the table.)''</span>
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No familial forms have been described.  
No familial forms have been described.  
Put your text here <span style="color:#0070C0">(''Instructions: Include associated hereditary conditions/syndromes that cause this entity or are caused by this entity.'') </span>
==Additional Information==
==Additional Information==


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